Deep vein thrombosis and pulmonary embolism in a child with diabetic ketoacidosis and protein s deficiency: a case report.

Introduction: Diabetic ketoacidosis (DKA) is considered a hypercoagulable state, which may be exacerbated in patients with thrombophilia and lead to thrombosis.

Case Report: We report on a 5.5-year-old boy, who was admitted to the pediatric department with DKA due to newly diagnosed type 1 diabetes.

Acute megakaryoblastic leukemia with increased hematogones in children.

We describe 2 patients, a 4-month-old male and a 17-month-old female, with de novo acute megakaryoblastic leukemia with increased number of hematogones at diagnosis. Both children were admitted in the hospital with thrombocytopenia. The bone marrow smears in the first child revealed the presence of 60% cells with morphologic features consistent with acute megakaryoblastic leukemia.

Serum hepcidin and ferritin to iron ratio in evaluation of bacterial versus viral infections in children: a single-center study.

Background: Differential diagnosis of childhood infections is important. Several biochemical indices steer diagnosis toward bacterial agents, although the data are often not definitive. Hepcidin is a central component of blood iron, and ferritin alterations occur during infections.

Incomplete Kawasaki disease with intermittent fever and retropharyngeal inflammation.

Kawasaki disease is a systemic vasculitis of unknown etiology, presenting typically in infants and young children. We report a rare case of incomplete Kawasaki disease in a 15-month-old male infant presenting with symptoms mimicking retropharyngeal abscess and intermittent fever.

Vitamin D receptor polymorphisms in hypocalcemic vitamin D-resistant rickets carriers.

Background/aims: Hypocalcemic vitamin D-resistant rickets (HVDRR) is a rare autosomal recessive disorder characterized by severe rickets, hypocalcemia, secondary hyperparathyroidism, elevated levels of 1,25-dihydroxyvitamin D(3) [1,25(OH)(2)D(3)], and occasionally, alopecia. In most cases, the disease is associated with mutations in the gene of the vitamin D receptor (VDR), the mediator of 1,25(OH)(2)D(3) action. The apparently healthy HVDRR heterozygotes express both normal and mutant VDR alleles, and they present higher levels of 1,25(OH)(2)D(3) than their respective controls.

Pseudohypoparathyroidism type Ia and growth hormone deficiency. Growth hormone releasing hormone receptor defect?

We report a boy with pseudohypoparathyroidism (PHP), hypothyroidism and low growth hormone (GH) values with no response to growth hormone releasing hormone (GHRH). He presented at age 17 mo because of developmental delay. He had the typical features (short stature, obesity, round face, brachydactyly) of Albright's hereditary osteodystrophy (AHO) and the biochemical profile of PHP; low serum calcium and high phosphate, raised parathormone (PTH) values and lack of response of urinary phosphate and cyclic AMP to PTH administration.

Effects of anticonvulsant therapy on vitamin D status in children: prospective monitoring study.

Reports of hypovitaminosis D associated with anticonvulsant drugs in pediatric patients are conflicting. The effects of carbamazepine or sodium valproate on vitamin D status were evaluated prospectively in 51 ambulatory epileptic children who were followed during the first year of the study and in 25 and 6 children during the second and third year, respectively. Serum 25-hydroxyvitamin D, parathyroid hormone, calcium, and phosphorus levels were determined before and every 3 months during anticonvulsant therapy.

The effect of vitamin K supplementation on biochemical markers of bone formation in children and adolescents with cystic fibrosis.

Introduction: Impaired vitamin K status in cystic fibrosis (CF) has been considered as a newly emerged pathogenetic factor for reduced bone mineral density (BMD).

Objectives: Our aim was to evaluate the effectiveness of vitamin K supplementation in managing bone formation abnormalities in children and adolescents with CF.

Materials And Methods: The statuses of vitamins K and D in relation to biochemical markers of bone metabolism and BMD were examined in 20 CF children receiving vitamin D supplements but not vitamin K supplements.

Calcium and vitamin D metabolism in hypocalcemic vitamin D-resistant rickets carriers.

Background/aims: Hypocalcemic vitamin D-resistant rickets (HVDRR) is a rare monogenic autosomal recessive disorder associated with mutations in the gene of the vitamin D receptor (VDR), the mediator of 1,25(OH)2D3 action. Although many investigations have discussed the clinical manifestations and molecular etiology of this disease, only a few have investigated the biochemical and hormonal status of heterozygous HVDRR. The aim of the current work was to investigate the profile of selected biochemical and hormonal parameters related to the vitamin D endocrine system in a large number of HVDRR heterozygotes.

Urinary excretion of endothelin-1 in children with absorptive idiopathic hypercalciuria.

Urinary excretion of endothelin-1 (ET-1) and plasma ET-1 were measured in 21 children with absorptive idiopathic hypercalciuria (AIH) and 22 controls. The absorptive type of idiopathic hypercalciuria was determined by a calcium loading test. Daily urinary excretion of ET-1 and urinary ET-1/creatinine ratio were significantly increased ( P=0.

Endothelin-1 in children with acute poststreptococcal glomerulonephritis and hypertension.

Background: Endothelin-1 (ET-1), the most potent vasoconstrictor peptide, is known to play a role in arterial hypertension. In patients with acute poststreptococcal glomerulonephritis (APSGN) an increase in the production of ET-1 is suspected due to damaged endothelium, platelet activation and increased thrombin production in the glomeruli. The aim of the present study was to investigate whether the levels of plasma ET-1 are elevated in children with APSGN.